What Is Tay-Sachs Disease?
A baby with Tay-Sachs disease is born without an important enzyme. Enzymes are proteins that control chemical reactions in the body. Without this enzyme, called hexosaminidase A (HEXA), fatty proteins build up in the brain and lead to damage in the brain and spinal cord.
What Are the Signs & Symptoms of Tay-Sachs Disease?
Babies born with Tay-Sachs develop as expected in the first 3 to 6 months of life. Then, within months to a few years, they lose the ability to see, hear, and move. By age 2, most start having seizures. Unfortunately, children with the condition usually do not live past 5 years of age.
Rarely, a child may have a less severe form of Tay-Sachs disease that is less serious and/or progresses more slowly.
What Causes Tay-Sachs Disease?
Tay-Sachs disease is a condition that runs in families. A child gets it by inheriting the gene for it from both parents. The parents are carriers of the gene. This means that they each have one of the genes for Tay-Sachs disease. Carriers of Tay-Sachs disease do not show any symptoms of it.
How Is Tay-Sachs Disease Diagnosed?
A doctor may suspect Tay-Sachs when a baby has movement problems or stops doing things they used to do, like crawling or sitting up. Doctors can diagnose the condition by doing an exam and ordering blood tests.
Before or during a pregnancy, couples can get screened for the Tay-Sachs gene with a simple blood test. If both carry the Tay-Sachs gene, a genetic counselor can provide more information.
Pregnant women can have their unborn babies tested for Tay-Sachs disease through chorionic villus sampling (CVS) or amniocentesis.
How Is Tay-Sachs Disease Treated?
There is no cure for Tay-Sachs disease. Sometimes, doctors prescribe medicines to relieve pain and manage seizures.
Researchers are studying ways to improve treatment for Tay-Sachs disease.
What Else Should I Know?
Having a child with Tay-Sachs disease can feel overwhelming for any family. But you're not alone. To find support, talk to anyone on the care team or a hospital social worker. Many resources are available to help your family. For more information and support, you can also visit: